G109V (p.Gly109Val) variant of GJB2 (Gap junction beta-2 protein)
G109V (p.Gly109Val) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
G109V (p.Gly109Val) variant details
- p.Gly109Val
- rs374572413
- ClinGen CA387461383
- ClinVar RCV001251625
- ClinVar RCV004590284
- Likely pathogenic
- not provided; Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- AlphaMissense 0.50
- MetaLR 0.79
- MetaSVM 0.34
- PolyPhen-2 0.01
- SIFT 0.06
- EVE 0.14
- ClinVar: Likely pathogenic (not provided; Nonsyndromic genetic hearing loss)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available